Targeted gene sequencing, bone health, and body composition in Cornelia de Lange Syndrome

Matute-Llorente, Ángel (Universidad de Zaragoza) ; Ascaso, Ángela ; Latorre-Pellicer, Ana (Universidad de Zaragoza) ; Puisac, Beatriz (Universidad de Zaragoza) ; Trujillano, Laura ; Llorente, Elena ; Puente-Lanzarote, Juan José (Universidad de Zaragoza) ; Ayerza-Casas, Ariadna ; Arnedo, María (Universidad de Zaragoza) ; Moreno, Luis A. (Universidad de Zaragoza) ; Ramos, Feliciano (Universidad de Zaragoza) ; Pié, Juan (Universidad de Zaragoza) ; Casajus, José A. (Universidad de Zaragoza) ; Bueno-Lozano, Gloria (Universidad de Zaragoza)

Resumen: The aim of this study was to evaluate bone health and body composition by dual-energy X-ray absorptiometry (DXA) in individuals with Cornelia de Lange Syndrome (CdLS). Overall, nine individuals with CdLS (five females, all Caucasian, aged 5-38 years) were assessed. Total body less head (TBLH) and lumbar spine (LS) scans were performed, and bone serum biomarkers were determined. Molecular analyses were carried out and clinical scores and skeletal features were assessed. Based on deep sequencing of a custom target gene panel, it was discovered that eight of the nine CdLS patients had potentially causative genetic variants in NIPBL. Fat and lean mass indices (FMI and LMI) were 3.4-11.1 and 8.4-17.0 kgm2, respectively. For TBLH areal bone mineral density (aBMD), after adjusting for height for age Z-score of children and adolescents, two individuals (an adolescent and an adult) had low BMD (aBMD Z-scores less than -2.0 SD). Calcium, phosphorus, 25-OH-vitamin D, parathyroid hormone, and alkaline phosphatase levels were 2.08-2.49 nmolL, 2.10-3.75 nmolL, 39.94-78.37 nmolL, 23.4-80.3 pgmL, and 43-203 IUL, respectively. Individuals with CdLS might have normal adiposity and low levels of lean mass measured with DXA. Bone health in this population seems to be less of a concern during childhood and adolescence. However, they might be at risk for impaired bone health due to low aBMD in adulthood.

Idioma: Inglés

DOI: 10.3390/app11020710

Año: 2021

Publicado en: Applied Sciences (Switzerland) 11, 2 (2021), 710 [11 pp]
ISSN: 2076-3417

Factor impacto JCR: 2.838 (2021)

Categ. JCR: ENGINEERING, MULTIDISCIPLINARY rank: 39 / 92 = 0.424 (2021) - Q2 - T2
Categ. JCR: PHYSICS, APPLIED rank: 76 / 161 = 0.472 (2021) - Q2 - T2
Categ. JCR: MATERIALS SCIENCE, MULTIDISCIPLINARY rank: 218 / 344 = 0.634 (2021) - Q3 - T2
Categ. JCR: CHEMISTRY, MULTIDISCIPLINARY rank: 100 / 179 = 0.559 (2021) - Q3 - T2

Factor impacto CITESCORE: 3.7 - Engineering (Q2) - Materials Science (Q2) - Chemical Engineering (Q2) - Computer Science (Q2) - Physics and Astronomy (Q2)

Factor impacto SCIMAGO: 0.507 - Engineering (miscellaneous) (Q2) - Computer Science Applications (Q2) - Process Chemistry and Technology (Q2) - Materials Science (miscellaneous) (Q2) - Fluid Flow and Transfer Processes (Q2)

Financiación: info:eu-repo/grantAgreement/ES/DGA/B32-17R
Financiación: info:eu-repo/grantAgreement/ES/FIS/PI19-01860

Tipo y forma: Artículo (Versión definitiva)

Área (Departamento): Área Enfermería (Dpto. Fisiatría y Enfermería)
Área (Departamento): Área Educación Física y Depor. (Dpto. Fisiatría y Enfermería)
Área (Departamento): Área Fisiología (Dpto. Farmac.Fisiol.y Med.L.F.)
Área (Departamento): Área Pediatría (Dpto. Microb.Ped.Radio.Sal.Pú.)